This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_619639.3:p.Phe3499Leu
CA364434680
NM_138694.3:c.10497C>G
CA364434682
NM_138694.3:c.10497C>A
CA364434690
NM_138694.3:c.10495T>C